22q11.2 DS syndrome as a genetic subtype of schizophrenia
Introduction The 22q11.2 deletion syndrome (22q11.2 DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2 DS has a prevalence of 2%, and in selected groups can be...
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ir-10336-230502022-05-02T12:37:14Z 22q11.2 DS syndrome as a genetic subtype of schizophrenia El síndrome 22q11.2D S como un subtipo genético de esquizofrenia Huertas-Rodríguez, Cindy Katherin Forero-Castro, Ruth Maribel Payan-Gomez, Cesar Article Birth defect Chromosome deletion 22q11 Chromosome deletion 22q11.2 Clinical feature Clinical practice Down syndrome Fluorescence in situ hybridization Genetic association Genetic disorder Genetic risk Human Medical record review Mental disease Molecular genetics Morbidity Multiplex ligation dependent probe amplification Phenotype Polymerase chain reaction Schizophrenia Digeorge syndrome Genetic counseling Genetic predisposition Genetics Psychology Schizophrenia Digeorge Syndrome Genetic Counseling Genetic Predisposition to Disease Humans Phenotype Schizophrenia 22q11.2 deletion syndrome 22q11.2 microdeletion 22q11.2DS Schizophrenia Introduction The 22q11.2 deletion syndrome (22q11.2 DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2 DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. Objective To describe the generalities of 22q11.2 DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. Methods A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2 DS syndrome and its association with schizophrenia. Results The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. Conclusions It is important in clinical practice to remember that people suffering the 22q11.2 DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2 DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring. © 2014 Asociación Colombiana de Psiquiatría. 2015 2020-05-25T23:59:28Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 347450 https://repository.urosario.edu.co/handle/10336/23050 https://doi.org/10.1016/j.rcp.2014.09.002 eng info:eu-repo/semantics/openAccess application/pdf Elsevier Doyma instname:Universidad del Rosario |
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EdocUR - Universidad del Rosario |
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Inglés (English) |
topic |
Article Birth defect Chromosome deletion 22q11 Chromosome deletion 22q11.2 Clinical feature Clinical practice Down syndrome Fluorescence in situ hybridization Genetic association Genetic disorder Genetic risk Human Medical record review Mental disease Molecular genetics Morbidity Multiplex ligation dependent probe amplification Phenotype Polymerase chain reaction Schizophrenia Digeorge syndrome Genetic counseling Genetic predisposition Genetics Psychology Schizophrenia Digeorge Syndrome Genetic Counseling Genetic Predisposition to Disease Humans Phenotype Schizophrenia 22q11.2 deletion syndrome 22q11.2 microdeletion 22q11.2DS Schizophrenia |
spellingShingle |
Article Birth defect Chromosome deletion 22q11 Chromosome deletion 22q11.2 Clinical feature Clinical practice Down syndrome Fluorescence in situ hybridization Genetic association Genetic disorder Genetic risk Human Medical record review Mental disease Molecular genetics Morbidity Multiplex ligation dependent probe amplification Phenotype Polymerase chain reaction Schizophrenia Digeorge syndrome Genetic counseling Genetic predisposition Genetics Psychology Schizophrenia Digeorge Syndrome Genetic Counseling Genetic Predisposition to Disease Humans Phenotype Schizophrenia 22q11.2 deletion syndrome 22q11.2 microdeletion 22q11.2DS Schizophrenia Huertas-Rodríguez, Cindy Katherin Forero-Castro, Ruth Maribel Payan-Gomez, Cesar 22q11.2 DS syndrome as a genetic subtype of schizophrenia |
description |
Introduction The 22q11.2 deletion syndrome (22q11.2 DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2 DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. Objective To describe the generalities of 22q11.2 DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. Methods A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2 DS syndrome and its association with schizophrenia. Results The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. Conclusions It is important in clinical practice to remember that people suffering the 22q11.2 DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2 DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring. © 2014 Asociación Colombiana de Psiquiatría. |
format |
Artículo (Article) |
author |
Huertas-Rodríguez, Cindy Katherin Forero-Castro, Ruth Maribel Payan-Gomez, Cesar |
author_facet |
Huertas-Rodríguez, Cindy Katherin Forero-Castro, Ruth Maribel Payan-Gomez, Cesar |
author_sort |
Huertas-Rodríguez, Cindy Katherin |
title |
22q11.2 DS syndrome as a genetic subtype of schizophrenia |
title_short |
22q11.2 DS syndrome as a genetic subtype of schizophrenia |
title_full |
22q11.2 DS syndrome as a genetic subtype of schizophrenia |
title_fullStr |
22q11.2 DS syndrome as a genetic subtype of schizophrenia |
title_full_unstemmed |
22q11.2 DS syndrome as a genetic subtype of schizophrenia |
title_sort |
22q11.2 ds syndrome as a genetic subtype of schizophrenia |
publisher |
Elsevier Doyma |
publishDate |
2015 |
url |
https://repository.urosario.edu.co/handle/10336/23050 https://doi.org/10.1016/j.rcp.2014.09.002 |
_version_ |
1740172366821982208 |
score |
12,131701 |